US Patent:
20140088942, Mar 27, 2014
Inventors:
- Aliso Viejo CA, US
Hong Lu - Lake Forest CA, US
Hsiaomei Lu - Irvine CA, US
Kelly Gonzalez - Aliso Viejo CA, US
Melissa Parra - Woodland Hills CA, US
Wenqi Zeng - Arcadia CA, US
Elizabeth Chao - Newport Beach CA, US
Charles Dunlop - Laguna Beach CA, US
Assignee:
AMBRY GENETICS - Aliso Viejo CA
International Classification:
G06F 19/12
Abstract:
A computer-implemented bioinformatics program annotates human genetic variants by integrating multiple sources of information. The program rapidly filters variants that are unlikely to play a role in the etiology of particular diseases. This filtering may be performed based on such annotations, on clinical profiles and family histories, and on analyses under various inheritance models, in order to classify human variants and identify mutations influencing patients' diseases.